PMID- 18442948
OWN - NLM
STAT- MEDLINE
DCOM- 20080715
LR  - 20080620
IS  - 1521-7035 (Electronic)
IS  - 1521-6616 (Linking)
VI  - 128
IP  - 1
DP  - 2008 Jul
TI  - Clinical application of DNA microarrays: molecular diagnosis and HLA matching of 
      an Amish child with severe combined immune deficiency.
PG  - 31-8
LID - 10.1016/j.clim.2008.02.016 [doi]
AB  - Amish and Mennonite children with severe combined immune deficiency (SCID) often 
      die without treatment as a result of delayed diagnoses and prohibitive costs of 
      therapy. In this detailed case report, we describe the novel use of DNA 
      microarrays to improve the diagnosis and management of an Amish infant with SCID. 
      Using 10,000 single nucleotide polymorphism (SNP) genotypes from the patient, her 
      parents, and seven siblings, we identified the recombinase activating genes for 
      diagnostic sequencing, and then characterized a novel pathogenic variant in RAG1 
      (c.2974A>G). The same genotype data were used to identify a sibling stem cell 
      donor who was haplo-identical at human leukocyte antigen (HLA) and blood group 
      (ABO) loci. Autozygosity and linkage analysis of SNP genotypes within a family 
      narrows the search for SCID candidate genes and provides a relatively simple and 
      inexpensive way to identify potential tissue donors among biological siblings.
FAU - Strauss, Kevin A
AU  - Strauss KA
AD  - Clinic for Special Children, Strasburg, Pennsylvania 17579, USA. 
      kstrauss@clinicforspecialchildren.org
FAU - Puffenberger, Erik G
AU  - Puffenberger EG
FAU - Bunin, Nancy
AU  - Bunin N
FAU - Rider, Nicholas L
AU  - Rider NL
FAU - Morton, Mary C
AU  - Morton MC
FAU - Eastman, James T 3rd
AU  - Eastman JT 3rd
FAU - Morton, D Holmes
AU  - Morton DH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080428
PL  - United States
TA  - Clin Immunol
JT  - Clinical immunology (Orlando, Fla.)
JID - 100883537
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Bone Marrow Transplantation
MH  - Female
MH  - Genes, RAG-1
MH  - Genotype
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - *Histocompatibility Testing
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - *Molecular Diagnostic Techniques
MH  - *Oligonucleotide Array Sequence Analysis
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Severe Combined Immunodeficiency/*genetics/physiopathology/therapy
EDAT- 2008/04/30 09:00
MHDA- 2008/07/17 09:00
CRDT- 2008/04/30 09:00
PHST- 2007/09/28 00:00 [received]
PHST- 2008/01/19 00:00 [revised]
PHST- 2008/02/28 00:00 [accepted]
PHST- 2008/04/30 09:00 [pubmed]
PHST- 2008/07/17 09:00 [medline]
PHST- 2008/04/30 09:00 [entrez]
AID - S1521-6616(08)00062-4 [pii]
AID - 10.1016/j.clim.2008.02.016 [doi]
PST - ppublish
SO  - Clin Immunol. 2008 Jul;128(1):31-8. doi: 10.1016/j.clim.2008.02.016. Epub 2008 
      Apr 28.